ClinVar Miner

Variants from Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre

Location: Russian Federation — Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
6 8 7 0 0 21

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
FLNC 0 3 0 3
LMNA 1 1 1 3
PTPN11 3 0 0 3
MYPN 0 1 1 2
BRAF 1 0 0 1
CBL 0 1 0 1
DSP 0 1 0 1
JPH2 0 0 1 1
LOC114827850, MYL2 0 1 0 1
MYH6 0 0 1 1
PRKAG2 0 0 1 1
RYR2 1 0 0 1
SNTA1 0 0 1 1
TAZ 0 0 1 1

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance total
Restrictive cardiomyopathy 0 1 2 3
Cardiomyopathy, familial hypertrophic, 26 0 2 0 2
Dilated cardiomyopathy 1A 1 0 1 2
Noonan syndrome 1 2 0 0 2
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 1 1 0 2
Primary dilated cardiomyopathy 0 1 1 2
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 1 0 0 1
Familial hypertrophic cardiomyopathy 4 1 0 0 1
Familial hypertrophic cardiomyopathy 6 0 0 1 1
Familial isolated restrictive cardiomyopathy 0 1 0 1
LEOPARD syndrome 1 1 0 0 1
Left ventricular noncompaction 0 0 1 1
Progressive familial heart block 0 1 0 1
Sick sinus syndrome 0 0 1 1

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